Gene Symbol | RTEL1 |
Entrez Gene ID | 51750 |
Full Name | regulator of telomere elongation helicase 1 |
Synonyms | C20orf41,DKCA4,DKCB5,NHL,PFBMFT3,RTEL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]. |
Disorder MIM: | |
Disorder Html: | Dyskeratosis congenita, autosomal recessive 5, 615190 (3); Dyskeratosis congenita, autosomal dominant 4, 615190 (3); Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3) |